Deletions of 17q12 are well described and associated with maturity onset diabetes of the young type 5 (MODY5) and cystic renal disease (HNF1β) as well as cognitive impairment and seizures. Duplication of 17q12 is emerging as a new genetic syndrome, associated with learning disability, ...
Palmer CG, Reichmann A. Chromosomal and clinical findings in 110 females with Turner syndrome. Hum Genet. 1976;35:35–49. ArticlePubMedCASGoogle Scholar El Abd S, Patton MA, Turk J, Hoey H, Howlin P. Social, communicational, and behavioral deficits associated with ring X Turner syndrome. ...
Patient 3 was carrying a de novo 1.65 Mb 17q12 duplication, previously involved in the chromosomal 17q12 duplication syndrome (OMIM 614526). Patient 4 carried the recurrent de novo 7q11.23 deletion, identified by FISH, responsible for Williams–Beuren syndrome (OMIM 194050). We identified four ...
(1980) Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication:H-Y antigen and Xg blood group findings. J. Med. Genet. 17, 291–300. CAS PubMed Central PubMed Google Scholar Scherer, G., Schempp, W., Baccichetti, C., et al. (19...
10 Kirk EP, Malaty-Brevaud V, Martini N et al: The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. Clin Genet 2009; 75: 301–303. 11 Lugtenberg D, de Brouwer AP, Kleefstra T et al: Chromosomal copy number ...
(A) Chromosome 17q21.1q23.2 region showing 2.2 Mb duplication at chromosome 17: 55457520–57693617 (hg18 build of the UCSC genome browser) with increased log2 ratio and copy-number state in two patients (5103-01 and 5377-01) involving 1119 and 1120 markers. Seventeen RefSeq genes are locate...
These microalterations include interstitial deletions associated with many of the known microdeletion syndromes such as Prader–Willi syndrome associated with deletion 15q12 and Williams syndrome associated with deletion 7q11.23. Cryptic rearrangements can also occur in which chromosomal segments are ...
Thus, a duplication of the Philadelphia chromosome was recorded as gain of 9q34 and of 22p13->q11.2 (Table 1, No.6). An unbalanced translocation der(22)t(9;22)(q34;q11) was translated into gain of 9q34 and loss of the segment 22q11.2q13 (Table 1, No. 7). Accordingly, a ...
Human chromosome 15q11-q13.1 is associated with three distinct neurodevelopmental disorders—Angelman (AS), Prader-Willi (PWS), and 15q duplication (Dup 15q) syndromes. While symptomatic treatments are prescribed, no cure is currently available. Using iPSC technology, we established in vitro model ...
Several important neurodevelopmental genes are affected by the 3.56 Mb copy number gain of 1p21.3p21.2, which may be considered reciprocal in gene content to the recently recognized 1p21.3 microdeletion syndrome. Both 1p21.3 deletions and the presented duplication display overlapping symptoms, fitting ...